{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T01:58:54Z","timestamp":1789437534964,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,3,12]],"date-time":"2022-03-12T00:00:00Z","timestamp":1647043200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100015549","name":"Science and Technology Development Fund","doi-asserted-by":"publisher","award":["25877"],"award-info":[{"award-number":["25877"]}],"id":[{"id":"10.13039\/100015549","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Bruck Syndrome (BS) is a very rare disorder characterized by osteogenesis imperfecta (OI) associated with congenital contractures and is caused by mutations in <jats:italic>FKBP10<\/jats:italic> or <jats:italic>PLOD2<\/jats:italic> genes. Herein, we describe 13 patients from 9 unrelated Egyptian families with BS. All patients had white sclerae, recurrent fractures, kyphoscoliosis and osteoporosis with variable degrees of severity. Large joint contractures were seen in 11 patients, one patient had contractures of small interphalangeal joints, and one patient had no contractures. Unusual findings noted in individual patients included microcephaly, dental malocclusion, enamel hypoplasia, unilateral congenital dislocation of knee joint, prominent tailbone, and myopathy. Nine different variants were identified in <jats:italic>FKBP10<\/jats:italic> and <jats:italic>PLOD2<\/jats:italic> including five novel ones. <jats:italic>FKBP10<\/jats:italic> variants were found in six families (67%) while <jats:italic>PLOD2<\/jats:italic> variants were identified in three families (33%). The four families, with two affected sibs each, showed inter\u2010 and intrafamilial phenotypic variability. In conclusion, we report five novel variants in <jats:italic>FKBP10<\/jats:italic> and <jats:italic>PLOD2<\/jats:italic> thus, expanding the mutational spectrum of BS. In addition, our results expand the phenotypic spectrum, describe newly associated orodental findings, and further illustrate the phenotypic overlap between OI and Bruck syndrome supporting the suggestion of considering BS as a variant of OI rather than a separate entity.<\/jats:p>","DOI":"10.1002\/ajmg.a.62718","type":"journal-article","created":{"date-parts":[[2022,3,12]],"date-time":"2022-03-12T13:09:28Z","timestamp":1647090568000},"page":"1815-1825","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Bruck syndrome in 13 new patients: Identification of five novel <scp><i>FKBP10<\/i><\/scp> and <scp><i>PLOD2<\/i><\/scp> variants and further expansion of the phenotypic spectrum"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2313-7387","authenticated-orcid":false,"given":"Ghada A.","family":"Otaify","sequence":"first","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Institute, National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2480-0147","authenticated-orcid":false,"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department Human Genetics and Genome Research Institute, National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8902-9018","authenticated-orcid":false,"given":"Nehal F.","family":"Hassib","sequence":"additional","affiliation":[{"name":"Orodental Genetics Department Human Genetics and Genome Research Institute, National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1498-6619","authenticated-orcid":false,"given":"Rasha M.","family":"Elhossini","sequence":"additional","affiliation":[{"name":"Clinical 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